RESUMO
OBJECTIVES: To determine if mixed connective tissue disease (MCTD) can be considered an independent clinical entity, to compare 3 different classification criteria for MCTD (Kasukawa, Alarcón-Segovia, and Sharp), and to define predictors (clinical features and autoantibodies) of potential evolution toward other connective tissue diseases (CTDs). METHODS: One hundred sixty-one MCTD patients were evaluated retrospectively at the diagnosis and in 2008. They were classified, at the diagnosis, according to the 3 classification criteria of MCTD (Sharp, Alarcón-Segovia, and Kasukawa) and reclassified in 2008 according to their evolution. Statistical analyses were performed to find out predictors (clinical features and autoantibodies) of evolution into other CTDs. RESULTS: After a mean of 7.9 years of disease, 57.9% of patients still satisfied MCTD classification criteria of Kasukawa; 17.3% evolved into systemic sclerosis, 9.1% into systemic lupus erythematosus, 2.5% into rheumatoid arthritis, 11.5% was reclassified as affected by undifferentiated connective tissue disease, and 1.7% as suffering from overlap syndrome. Kasukawa's criteria were more sensitive (75%) in comparison to those of Alarcón-Segovia (73%) and Sharp (42%). The presence of anti-DNA antibodies (P = 0.012) was associated with evolution into systemic lupus erythematosus; hypomotility or dilation of esophagus (P < 0.001); and sclerodactyly (P = 0.034) with evolution into systemic sclerosis. CONCLUSIONS: MCTD is a distinct clinical entity but it is evident that a subgroup of patients may evolve into another CTD during disease progression. Initial clinical features and autoantibodies can be useful to predict disease evolution.
Assuntos
Progressão da Doença , Doença Mista do Tecido Conjuntivo/diagnóstico , Adulto , Autoanticorpos/imunologia , Feminino , Seguimentos , Humanos , Masculino , Doença Mista do Tecido Conjuntivo/classificação , Doença Mista do Tecido Conjuntivo/imunologia , Estudos RetrospectivosRESUMO
The C1858T allele of the PTPN22 gene has been reported to confer risk for RA; but in some reports, the effect was restricted to RF- and/or anti-CCP-seropositive patients. Hungarian RA patients and matched controls were genotyped. The 1858T allele showed an increased prevalence in RA patients compared to controls. The 1858T allele represents a risk factor in the whole RA population (P = 0.001); an association was found both in RF-seropositive (P = 0.001) and anti-CCP-seropositive patients (P = 0.001), and in subjects with the combination of these factors (P = 0.002). In TT homozygotes, the estimated susceptibility to RA was more than double (OR = 5.04) of that seen in TC heterozygotes (OR = 1.89); the same gene dosage effect was observed in all seropositive RA subgroups. Our data show that the Hungarian RA patients belong to the populations in which the 1858T allele represents a susceptibility factor both in the RF- and/or anti-CCP-seropositive subjects, and the association exhibit a gene dosage dependency.
Assuntos
Artrite Reumatoide/enzimologia , Artrite Reumatoide/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Proteína Tirosina Fosfatase não Receptora Tipo 22/genética , Adulto , Distribuição por Idade , Idoso , Artrite Reumatoide/etnologia , Análise Mutacional de DNA , Feminino , Dosagem de Genes/genética , Frequência do Gene/genética , Marcadores Genéticos/genética , Testes Genéticos , Genótipo , Homozigoto , Humanos , Hungria/etnologia , Ativação Linfocitária/genética , Masculino , Pessoa de Meia-Idade , Fator Reumatoide/genética , Distribuição por Sexo , Linfócitos T/enzimologiaRESUMO
OBJECTIVE: To assess the prevalence of rheumatoid arthritis (RA) in a representative study of the South Transdanubian region of Hungary. METHODS: Ten thousand individuals aged between 14-65 years were interviewed. The stratified sample was representative for age, sex and urban/rural residence structure of the regional population of the South-West Hungarian region. As a second step, all individuals with possible RA were asked to undergo a clinical investigation to confirm the diagnosis of RA according to the American Rheumatism Association (ARA) 1987 criteria. Of 10,000 interviewed individuals, 632 reported having RA or symptoms including digital pain, stiffness, and/or swelling. Two hundred and twenty-four individuals were investigated clinically. Individuals fulfilling the 1987 ARA criteria were considered as having definite RA, and their clinical data were evaluated. RESULTS: RA was confirmed in 13 cases. The male/female ratio was 3/10. The prevalence of RA among individuals aged 14-65 years was 0.37% (95% confidence interval, CI: 0.26-0.51), 0.23% (95% CI: 0.15-0.35) in men and 0.48% (95% CI: 0.35-0.64) in women. CONCLUSION: The prevalence of RA in the South Transdanubian region of Hungary is similar to those of other recent studies from other regions around the world.
